Pediatric Cardiomyopathy Mutation Analysis
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Cardiomyopathies
- Sponsor
- Indiana University
- Enrollment
- 300
- Locations
- 1
- Primary Endpoint
- Elucidate the molecular genetics of cardiomyopathy
- Status
- Recruiting
- Last Updated
- 10 months ago
Overview
Brief Summary
The goal of this protocol is to obtain information from individuals with cardiomyopathy and from their families in order to elucidate the molecular genetics of this disorder. This will provide the basis for future genetic counseling as well as contribute to elucidating the biology of normal and abnormal cardiac function.
Detailed Description
Cardiomyopathy is a genetically heterogeneous heart muscle disorder that results in ventricular dysfunction. While significant progress has been made in identifying the genetic basis of cardiomyopathy in adults, molecular diagnosis in children has proven more challenging and current algorithms do not incorporate mutation analysis in the clinical protocol. However, recent studies indicate that cardiomyopathy outcomes in children are origin specific, highlighting the importance of precise diagnosis. The goal of this study is to identify the genetic causes of pediatric cardiomyopathy. Rapid, comprehensive and cost-effective detection of genetic causes of cardiomyopathy will aid management and development of novel treatment strategies.
Investigators
Stephanie Ware
Professor of Pediatrics and Medical and Molecular Genetics
Indiana University
Eligibility Criteria
Inclusion Criteria
- •Subjects with cardiomyopathy
- •Family members of subjects with cardiomyopathy
Exclusion Criteria
- •Subjects without cardiomyopathy
- •Family members of subjects without cardiomyopathy
Outcomes
Primary Outcomes
Elucidate the molecular genetics of cardiomyopathy
Time Frame: 7 years